المؤلفون: Julie Sawalle-Belohradsky, Beate Hagl, H. Bobby Gaspar, Gundula Notheis, Ferah Genel, László Maródi, Abbas Hawwari, Stephan Ehl, Kirsten Bienemann, Fatih Mehmet Azik, Ilhan Tezcan, Deniz Cagdas Ayvaz, Zobaida Alsum, Larysa Kostyuchenko, Hans D. Ochs, Valerie Heinz, Oscar Porras, Waleed Al-Herz, Gregor Dückers, Daifulah Al-Zahrani, Sara Sebnem Kilic, Vincent Barlogis, Talal A. Chatila, Leena Kainulainen, Robbert G. M. Bredius, Joris M. van Montfrans, Betul Tavil, Karin R. Engelhardt, Benjamin Gathmann, Ashish R Kumar, Jens Thiel, Michael H. Albert, Alexandra F. Freeman, Andrew R. Gennery, Neslihan Edeer Karaca, Raif S. Geha, Sevgi Keles, Susanne Matthes-Martin, Roland C. Aydin, Ansgar Schulz, Sung-Yun Pai, Ayse Metin, Capucine Picard, Ozden Sanal, Marianne Ifversen, Bernd H. Belohradsky, Steven M. Holland, Manfred Hönig, Bodo Grimbacher, S. Aydin, Jordan S. Orange, Nima Rezaei, Helen Su, Ellen D. Renner, Carl Philipp Schwarze, Taco W. Kuijpers, Necil Kutukculer, Hamoud Al-Mousa, Jordan K. Abbott, Zeina Baz, Caner Aytekin, Luis Ignacio Gonzalez-Granado

المساهمون: AII - Amsterdam institute for Infection and Immunity, Paediatric Infectious Diseases / Rheumatology / Immunology

المصدر: Journal of Clinical Immunology, 35(2), 189. Springer New York
Journal of clinical immunology, 35(2), 189-198. Springer New York

مصطلحات موضوعية: Male, DOCK8 deficiency, medicine.medical_treatment, Hematopoietic stem cell transplantation, Disease, THERAPY, Cohort Studies, STAT3, Neoplasms, Guanine Nucleotide Exchange Factors, Immunology and Allergy, combined immunodeficiency, Child, Stroke, Immunodeficiency, Incidence, Middle Aged, Phenotype, INFECTIONS, Child, Preschool, Cohort, SURVIVAL, Female, Dock8, Job Syndrome, natural outcome, Cohort study, Adult, medicine.medical_specialty, Adolescent, Immunology, Research Support, Malignancy, WISKOTT-ALDRICH SYNDROME, N.I.H, Young Adult, Internal medicine, medicine, Journal Article, Humans, Lymphocyte Count, Genetic Association Studies, Intramural, HYPER-IGE SYNDROME, business.industry, MUTATIONS, Infant, STEM-CELL TRANSPLANTATION, Immunoglobulin E, medicine.disease, Research Support, N.I.H., Intramural, Lymphocyte Subsets, Surgery, DEDICATOR, Mutation, CYTOKINESIS 8 DEFICIENCY, business, Follow-Up Studies

وصف الملف: image/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bf4afc46b4965adc66d9b22cce8a53cdTest
https://dspace.library.uu.nl/handle/1874/332865Test

المؤلفون: Elpis, Mantadakis, Julie, Sawalle-Belohradsky, Marianna, Tzanoudaki, Maria, Kanariou, Athanassios, Chatzimichael, Michael H, Albert

المصدر: Pediatric bloodcancer. 61(12)

مصطلحات موضوعية: Blood Platelets, Male, Child, Preschool, Mutation, Humans, Genetic Diseases, X-Linked, Child, Prognosis, Thrombocytopenia, Wiskott-Aldrich Syndrome Protein

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=pmid________::4ec8ed1d906e9654c9a2b3bebe5249bbTest
https://pubmed.ncbi.nlm.nih.gov/25154619Test

المؤلفون: Julie Sawalle-Belohradsky, Maria Kanariou, Michael H. Albert, Elpis Mantadakis, Marianna Tzanoudaki, Athanassios Chatzimichael

المصدر: Pediatric Blood & Cancer. 61:2305-2306

مصطلحات موضوعية: medicine.medical_specialty, Wiskott–Aldrich syndrome, business.industry, Hematology, Gene mutation, medicine.disease, X linked thrombocytopenia, Immune thrombocytopenia, Endocrinology, Oncology, hemic and lymphatic diseases, Internal medicine, Pediatrics, Perinatology and Child Health, Immunology, medicine, Platelet, business

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::2509940f0beb6c4ba7fa2d7128684ab9Test
https://doi.org/10.1002/pbc.25196Test

المؤلفون: Bodo Grimbacher, Tim Niehues, Julie Sawalle-Belohradsky, Kathrin Siepermann, G Dueckers, Birgit Bayer, Bernd H. Belohradsky, Ellen D. Renner, Benedikt D. Spielberger, Beate Hagl, Katja Anslinger, Cristina Woellner

المصدر: The Journal of allergy and clinical immunology. 130(6)

مصطلحات موضوعية: Male, STAT3 Transcription Factor, Allergy, Genetic counseling, Immunology, DNA Mutational Analysis, Genetic Counseling, Immunoglobulin E, medicine, Immunology and Allergy, Humans, In patient, STAT3, Child, Cells, Cultured, Genes, Dominant, Genetics, biology, business.industry, Infant, medicine.disease, Pedigree, Child, Preschool, Mutation (genetic algorithm), Mutation, biology.protein, Th17 Cells, Female, business, Job Syndrome

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::11b9973d322e05d5abac4b1503bc6de8Test
https://pubmed.ncbi.nlm.nih.gov/22981789Test

المؤلفون: Bernd H. Belohradsky, Andreas Wollenberg, Reinhold Cremer, Janine Reichenbach, Julie Sawalle-Belohradsky, Hans D. Ochs, V. Wahn, Angela Roesen-Wolff, Troy R. Torgerson, Ellen D. Renner, Lena F. Schimke, Anita Rack, Manfred Hoenig, Annette Jansson, Nikolaus Rieber, Eberhart Maaß, Reinhard Seger, Harry R. Hill, Michael Borte, Bianca Schaub, Joachim Roesler, Roland Dopfer

المساهمون: University of Zurich

مصطلحات موضوعية: Adult, Male, STAT3 Transcription Factor, Allergy, Adolescent, Immunology, 610 Medicine & health, Immunoglobulin E, Dermatitis, Atopic, Atopy, Immunopathology, Genotype, medicine, Immunology and Allergy, Humans, Child, 2403 Immunology, biology, business.industry, Interleukin-17, Infant, Atopic dermatitis, T-Lymphocytes, Helper-Inducer, Middle Aged, medicine.disease, 10036 Medical Clinic, Child, Preschool, biology.protein, Primary immunodeficiency, 2723 Immunology and Allergy, Female, Dock8, business, Job Syndrome, Gene Deletion

وصف الملف: SchimkeLF,_2010_V.pdf - application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a152ea2458b16123dcd31cf71a9aa1e5Test
https://doi.org/10.5167/uzh-41259Test

المؤلفون: Ekrem Unal, Christoph Klein, Hatice Eke Gungor, Julie Sawalle Belohradsky, Turkan Patiroglu

المصدر: Turkish Journal of Hematology, Vol 30, Iss 2, Pp 232-233 (2013)
Turkish Journal of Hematology

مصطلحات موضوعية: lcsh:Internal medicine, medicine.medical_specialty, Pathology, Leucocyte function disorders, Gene mutation, Neutropenia, Images in Hematology, Azurophilic granule, Internal medicine, medicine, lcsh:RC31-1245, Myeloperoxidase, Hematology, Myeloperoxidase deficiency, medicine.diagnostic_test, biology, lcsh:RC633-647.5, business.industry, Neutrophil, Complete blood count, lcsh:Diseases of the blood and blood-forming organs, medicine.disease, Immunology, Absolute neutrophil count, biology.protein, business

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::509cdc4c8c8310bda824be72b0b123bfTest
https://doi.org/10.4274/tjh.2012.0012Test

المؤلفون: Janet Chou, Linda Monaco-Shawver, Jordan S. Orange, Raif S. Geha, Troy R. Torgerson, Bernd H. Belohradsky, Melissa C. Mizesko, Kathleen E. Sullivan, Steve M. Holland, Michael H. Albert, E.D. Renner, Waleed Al-Herz, Alexandra F. Freeman, Imelda C. Hanson, Julie Sawalle-Belohradsky, William Bernal, Pinaki P. Banerjee, Emily M. Mace, Valerie Heinz

المصدر: Annals of the Rheumatic Diseases. 72:A12.3-A13

مصطلحات موضوعية: Lymphokine-activated killer cell, Immunology, Cell, Biology, General Biochemistry, Genetics and Molecular Biology, Immunological synapse, Interleukin 21, medicine.anatomical_structure, Rheumatology, Lytic cycle, medicine, Immunology and Allergy, Dock8, DOCK8 Deficiency, B cell

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::1bfb58a1620815d6923b56b5e8b8c64aTest
https://doi.org/10.1136/annrheumdis-2013-203215.23Test

المؤلفون: Ellen D. Renner, V. Wahn, Beate Hagl, A. Langbeck, Gundula Notheis, Bernd H. Belohradsky, HansD. Ochs, Troy R. Torgerson, Klaus Schwarz, Michael H. Albert, Harry R. Hill, Janine Reichenbach, T. Niehuis, Lena F. Schimke, Joachim Roesler, Reinhard Seger, A. Wollenberg, Julie Sawalle-Belohradsky, Manfred Hoenig, Michael Borte

المصدر: Journal of Allergy and Clinical Immunology. 127:AB134-AB134

مصطلحات موضوعية: Job Syndrome, business.industry, Elevated serum IgE, Immunology, Immunology and Allergy, Medicine, business

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::bdc321bfa9f4829da268f68e2ac2c516Test
https://doi.org/10.1016/j.jaci.2010.12.535Test